J Pediatr Neurol
DOI: 10.1055/s-0038-1670692
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Acquired Vitamin B12 Deficiency in Infancy

Ala Fadilah
1  Department of Paediatric Neurology, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom
,
Rebecca Musson
1  Department of Paediatric Neurology, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom
,
Santosh R. Mordekar
1  Department of Paediatric Neurology, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom
› Author Affiliations
Further Information

Publication History

30 April 2018

12 August 2018

Publication Date:
02 October 2018 (eFirst)

Abstract

Vitamin B12 deficiency can be acquired in infants secondary to exclusive breastfeeding in deficient mothers. In this series of seven infants with acquired vitamin B12 deficiency, clinical features included developmental impairment/regression, faltering growth, feeding difficulties, somnolence, irritability, microcephaly, seizures, and abnormalities on brain magnetic resonance imaging. All had methylmalonic aciduria, other investigation findings were low serum cobalamin and hyperhomocysteinemia. Treatment brought about improvement in growth, behavior, and development; however, development remained impaired in some. We recommend early detection by screening in infants with suggestive clinical presentations, using urine methylmalonic acid/plasma homocysteine as screening tools, maternal screening during pregnancy, and long-term neurodevelopmental follow-up.